A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946923



Internal ID18593773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:148557334..148558557hg38UCSC Ensembl
Innerchr1:148292402..148293625hg19UCSC Ensembl
Innerchr1:146659026..146660249hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg381224
hg191224
hg181224
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2597573, nssv2597511, nssv2597514, nssv2597507, nssv2597571, nssv2597513, nssv2597568, nssv2597564, nssv2597567, nssv2597510, nssv2597509, nssv2597569, nssv2597512, nssv2597506, nssv2597572, nssv2597570, nssv2597565, nssv2597508, nssv2597505, nssv2597566
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLOC101929780, NBPF10, NBPF14, NBPF8, NBPF9
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946923
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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